"Suffering the Slings and Arrows of Outrageous Fortune"

EDS 101

Ehlers Danlos Syndrome, or EDS, is one of many connective tissue disorders and shares features of Marfan Syndrome and Osteogenisis Imperfecta (Brittle Bone Disease). In EDS, the genes have the wrong instructions for making collagen, so the collagen is faulty. Collagen is found throughout the body – it is made up of rubber-band like fibers that allow the body to move and flex and that support the organs.

Normal collagen is like a sturdy rubber band – it stretches, then rebounds to its original form. The collagen of someone with EDS is more like bubble gum – it stretches too far, becomes brittle, tears and shreds. Imagine trying to hold your body together with bubble gum!

Collagen is the most abundant protein in the body – it is found in the skin, joints, organs, blood vessels, eyes, ears, vocal chords, etc. For a person with faulty collagen, the list above is where problems can exist. Often, people with undiagnosed EDS will present a long list of seemingly unrelated symptoms to their doctor, who may never put the pieces together. Once the common thread of faulty collagen is found, all of the symptoms make sense.

Joints: the ligaments, tendons and cartilage are all affected causing hypermobile, lax joints which bend past neutral. The hypermobility can affect one joint or every joint in the body. Frequent, spontaneous dislocations and subuxations (partial dislocation) can occur, causing damage to joints and result in frequent injuries and long term damage. Chronic pain also is common and debilitating. Early onset of osteoarthritis, due to damaged joints, is common in EDS.

Cardiac: The valves in the heart can be lax and prolapse, the aortic root can be dilated.

Gastrointestinal: From GERD to IBS to gut paralysis, and everything in between. GI problems are often incredibly painful and challenging for EDSers.

Autonomic Dysfunction: Postural Orthostatic Tachycardia Syndrome, neurally mediated hypotension, Reynaulds (all caused by lax blood vessels which respond sluggishly to the brain’s signals). Can also be neurological in origin or caused by Mast Cell Disease, particularly in the hyperandrenergic type of POTS .

Neurological: Not only is Chiari Malformation associated with EDS, Cervical Instability and Tethered Cord are also common and both can cause serious neurological symptoms and irreversible complications. High intracranial pressure and Mast Cell Disease are now believed to be at the root of many neurological complications for many EDSer. EDS patients are often misdiagnosed with MS and EDS patients are significantly more likely to develop MS.

Vascular: Specific to the Vascular type of EDS, blood vessels and hollow organs can rupture, causing a life threatening emergency. Other types can have cross-over vascular symptoms, but they are typically not as serious as in the Vascular type. Fragile vasculature is common in all types.

Bones: Bones can be fragile and osteoperosis can occur at at early age.

Organs: The lung tissue being extremely lax can cause asthma; the bladder, bowel and uterus can prolapse.

Ears: The joints between the tiny bones in the ears can dislocate and cause hearing problems.

Throat: Swallowing difficulty, voice/speech problems

Dental: Teeth are fragile and sometimes break easily, gum disease – EDS folks are often accused of poor dental hygiene even when they take conscientious care of their teeth. Teeth, which are held in place by ligaments, move easily and orthodontic work is easily undone.

In addition, EDS patients often find that local anaesthetics do not work properly. Also, proprioception (your brain’s ability to sense where body parts are) tends to be impaired, predisposing the person to injury.

Because the problem is caused by a mutation in the genes, there is no cure for EDS. Nothing can make the collagen normal. The best nutrition in the world and a host of supplements will still result in faulty collagen.

Treatment focuses on addressing the symptoms and preserving joint health: Physical and Occupational therapy are essential for strengthening muscles but must be done with the greatest of caution so as to not cause damage to fragile joints. All of the various problems mentioned above must be treated as they come. Surgery is problematic due to skin fragility. An experienced, knowledgeable surgeon is a must. Surgery often does not yield the hoped for results, but may be necessary.

Many doctors know little or nothing about EDS – often even specialists fail to offer needed help. Unfortunately, the earlier one gets a diagnosis, the better the prognosis so the lack of knowledge among medical professionals can be devastating. Left untreated and unacknowledged for years, patients endure endless injuries and long-term damage while being dismissed as lazy, crazy, hypochondriacs, drug seeking, attention seeking. People in their 30s are told they just have growing pains.

If you think you or a loved one might have Ehlers Danlos Syndrome, it is imperative to educate yourself and your doctor. It would be ideal to find a doctor who is knowledgeable about EDS, but sometimes that is not an option. Being your own expert and advocating for yourself or loved one is essential. Getting to a knowledgeable rheumatologist and a geneticist is the way to a diagnosis.

Also, it is important to realize that the condition varies significantly from person to person: One person may only have aches and pains and the occasional injury – perhaps not even knowing they have it. Another person may suddenly have serious symptoms that leave them largely incapacitated. A child may struggled from the time they start to walk. Each person is absolutely individual in how the condition manifests in their lives.

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Comments on: "EDS 101" (23)

[…] rather than force it. For now, I will leave you with a link to this blog which talks a lot about Ehlers-Danlos Syndrome Type 3 which is what I’ve been diagnosed with as having in addition to POTS. It pre-disposed me to […]

I have Ehlers Danlos and find it very difficult to get medical help or attention… thankfully some doctors have started to become informed on it… Doctors use to think that I was making it up, it was a huge weight off my shoulders when my doctor positively diagnosed me with it… Thank you for the info and trying to get that knowledge out.

Thank you – nice, simple explanation that I can hand out to Brownie leaders etc when they need more information about my daughter’s issues. I’m lucky in that we have a diagnosis, incredibly supportive school and brilliant medical team.

Thanks so much for your great article! My family has finally gotten the EDS diagnoses after years of misdiagnoses. We suspect it may even come from both my mother and father’s sides, explaining why it occurred 100% among my siblings and me.

I’ve bookmarked this page so I can show it to friends and family who ask for more information.

(fyi, there is a typo in the Autonomic Dysfunction section. It should be Raynaud’s without an l)

I’m trying to get a diagnosis right now. Half-brother has EDS (diagnosed) and my mom is definitely hypermobile, but she gave up on fighting doctors for a diagnosis after being told for 20 years that she needed antidepressants and therapy. She has 2 brain cysts and cerebellar tonsillar ectopy of 4mm (just below the threshold for chiari malformation diagnosis). Maternal grandmother was a prescription drug addict for most of her life for pain. I’m barely functioning with many of the same symptoms and some new ones (will be 28 this year and have no teeth). Four months of waiting, only 2 weeks left until my geneticist appointment…if it isn’t EDS/chiari I don’t know what I’ll do. Had to fight so many doctors who just wanted to throw an antidepressant at me, sick of how pompous they act when they don’t want to do the research to figure out what’s wrong with you but won’t listen to you, even if there’s family history. Just trying to be my own advocate and ignore the slings and arrows of the medical industry… (see what I did there?)

A diagnosis is just the beginning. But, it is A beginning and that is an important thing! There are so many moving parts with EDS – it can take a long time to figure it all out so remember it is a marathon and not a sprint. In the meantime, congratulations on your diagnosis. (I know that is weird but you hopefully know what I mean!)

I am 49 yrs old and never officially been diagnosed, although all three of my children have it and the eldest has a different dad, at 23 I was sent to see a psychiatrist who said I was imagining the severe pain I was in and had to take back control of my own mind, I have changed my doctors many times since but I am still not diagnosed, I was in costant pain as a child and have carried this pain all through my adult life, I have visual problems, sometimes loosing my sight for up to 2 minutes, I have Gastro problems, swallowing problems, I’m still bendy, I drop things, I now have problems with C4,5,6 and 7 in my spine, I bruise easily, local anaesthetic does not work on me, my teath are crumbling, I could go on and on yet I am still undiagnosed as my doctors like to treat my symptoms as individual symptoms I have told many doctors that I may have EDS, they either smile like I’m an idiot, tell me this consigns doesn’t relate to EDS or stare at me blankly. I’ve tried everything over the last 35 years and I cannot afford to go private, so where do I go from here.

I am sorry to hear about your struggles. It can be so hard to struggle with EDS and all of the symptoms that come along with it. And, when doctors don’t believe you, well, that makes it so much harder. I will say that all of the things you describe sound very much like EDS to me. I believe you!

I see that you are in the UK. I would recommend going to http://hypermobility.org/discussion/ and signing up to get on the forum there. The folks there will have better answers for you than I can from here in the US. I wish I had a better answer for you, but I think joining that forum is your best bet for getting answers.

Welcome!

Thanks for visiting my blog where I chronicle 'Our Life with Ehlers Danlos Syndrome'. I am sharing my family's journey with EDS (and everything that goes along with it) in the hope that our experiences will help someone else.

Go to Our Story to read about the early days of our EDS journey. Or click here to go to the first post of this blog, if you would like to start at the beginning.

Take a look around - I hope you learn something that is helpful in your own journey! While you are here, I would love it if you left a comment telling me about yourself. Feel free to contact me if you have any suggestions about what you would like to see on this blog!

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